Canonical Allele Identifier: CA2437590180
Gene: NEXMIF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740945_74740962delinsGTTACCTTTGAGGGATTT , CM000685.2:g.74740945_74740962delinsGTTACCTTTGAGGGATTT GRCh38
NC_000023.10:g.73960780_73960797delinsGTTACCTTTGAGGGATTT , CM000685.1:g.73960780_73960797delinsGTTACCTTTGAGGGATTT GRCh37
NC_000023.9:g.73877505_73877522delinsGTTACCTTTGAGGGATTT NCBI36
NG_027726.1:g.189491_189508delinsAAATCCCTCAAAGGTAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000055682.12:c.3595_3612delinsAAATCCCTCAAAGGTAAC MANE Select ENSP00000055682.5:p.Lys1199=
ENST00000616200.2:c.3595_3612delinsAAATCCCTCAAAGGTAAC ENSP00000480284.1:p.Lys1199=
ENST00000642681.2:c.3595_3612delinsAAATCCCTCAAAGGTAAC ENSP00000495800.1:p.Lys1199=
ENST00000055682.10:c.3595_3612delinsAAATCCCTCAAAGGTAAC ENSP00000055682.5:p.Lys1199=
ENST00000616200.1:c.3595_3612delinsAAATCCCTCAAAGGTAAC ENSP00000480284.1:p.Lys1199=
NM_001008537.2:c.3595_3612delinsAAATCCCTCAAAGGTAAC NP_001008537.1:p.Lys1199=
XM_011530935.1:c.3595_3612delinsAAATCCCTCAAAGGTAAC XP_011529237.1:p.Lys1199=
NM_001008537.3:c.3595_3612delinsAAATCCCTCAAAGGTAAC MANE Select NP_001008537.1:p.Lys1199=